Variant report

Variant	rs2432779
Chromosome Location	chr6:5403081-5403082
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:5402538-5403148	SK-N-SH	brain:	n/a	n/a
2	GATA1	chr6:5402945-5404256	PBDE	blood:	n/a	chr6:5403920-5403927 chr6:5403923-5403932
3	RAD21	chr6:5402510-5403096	HCT-116	colon:	n/a	n/a
4	CTCF	chr6:5402418-5403115	HCT-116	colon:	n/a	n/a
5	CTCF	chr6:5403040-5403190	GM12873	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:5143607..5144647-chr6:5402160..5403231,5	MCF-7	breast:
2	chr6:5214686..5215658-chr6:5401229..5403280,10	K562	blood:
3	chr6:5143546..5144516-chr6:5402052..5403264,7	K562	blood:

Variant related genes	Relation type
FARS2	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1895645	0.84[AFR][1000 genomes]
rs2032989	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2250354	0.82[EUR][1000 genomes]
rs2432775	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2432781	0.83[EUR][1000 genomes]
rs2432784	0.82[EUR][1000 genomes]
rs2432793	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2503819	0.83[EUR][1000 genomes]
rs9405267	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031837	chr6:4996667-5418726	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	nsv1030254	chr6:5132261-5431585	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1019428	chr6:5216835-5627839	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv538118	chr6:5216835-5627839	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv830578	chr6:5264086-5455570	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1022738	chr6:5298362-5411645	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv883417	chr6:5307432-5431340	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv883418	chr6:5307432-5501389	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1015643	chr6:5311590-5452427	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1034607	chr6:5311590-5573514	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv538120	chr6:5311590-5573514	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv916361	chr6:5315853-5695486	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv1030744	chr6:5328012-5458222	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv1023027	chr6:5377308-5556749	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv538121	chr6:5377308-5556749	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv1022505	chr6:5388025-5449240	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv5180	chr6:5389197-5434354	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5369400-5419800	Weak transcription	Aorta	Aorta
2	chr6:5369600-5417400	Weak transcription	Fetal Intestine Small	intestine
3	chr6:5371000-5411400	Weak transcription	Ovary	ovary
4	chr6:5374400-5431400	Weak transcription	Primary B cells from cord blood	blood
5	chr6:5395400-5431200	Weak transcription	Left Ventricle	heart
6	chr6:5399200-5415800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:5399200-5440000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr6:5402400-5406000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr6:5402600-5408400	Weak transcription	Primary T cells from cord blood	blood
10	chr6:5402800-5403400	Enhancers	NHEK	skin
11	chr6:5403000-5403200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:5403000-5403200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr6:5403000-5403200	Enhancers	K562	blood
14	chr6:5403000-5403400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr6:5403000-5403400	Enhancers	Brain Substantia Nigra	brain
16	chr6:5403000-5403400	Enhancers	GM12878-XiMat	blood
17	chr6:5403000-5403600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr6:5403000-5404400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:5403000-5404400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:5403000-5404400	Enhancers	HMEC	breast
21	chr6:5403000-5404600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:5403000-5410400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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